ClinVar Miner

Variants studied for Long QT syndrome

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If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
199 99 1683 510 46 1 2 2 2512

Gene and significance breakdown #

Total genes and gene combinations: 135
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
KCNH2 96 39 291 57 1 0 1 1 477
ANK2 0 4 345 74 4 0 0 1 427
KCNQ1 89 37 141 63 7 0 0 0 326
AKAP9 0 3 258 56 2 0 0 0 318
CACNA1C 3 1 236 42 0 0 0 0 282
SCN5A 1 4 100 23 2 0 0 0 129
KCNE1 1 3 55 34 17 0 1 0 107
SCN4B 0 0 47 30 0 0 0 0 77
SNTA1 0 1 54 19 0 0 0 0 73
CAV3 0 2 35 10 0 0 0 0 47
KCNJ5 0 0 21 3 0 0 0 0 24
CAV3, SSUH2 4 1 13 2 0 0 0 0 20
KCNQ1, KCNQ1OT1 3 1 7 9 2 0 0 0 20
KCNE2 0 0 13 2 0 0 0 0 15
RYR2 0 1 12 0 0 0 0 0 13
TTN 0 0 5 2 5 0 0 0 12
LOC110121269, SCN5A 0 0 7 3 0 0 0 0 10
UBR4 0 0 4 0 0 0 0 0 4
MYBPC3 0 0 2 1 0 0 0 0 3
CIT 0 0 2 0 0 0 0 0 2
CTNNA3 0 0 2 0 0 0 0 0 2
DIP2A 0 0 1 1 0 0 0 0 2
DSG2 0 0 1 1 0 0 0 0 2
KCNE1, KCNE2, SMIM11A 0 0 2 0 0 0 0 0 2
KCNH2, LOC110121275 1 0 1 0 0 0 0 0 2
KCNJ2 0 0 2 0 0 0 0 0 2
KIF21B 0 0 2 0 0 0 0 0 2
NOS1AP 0 0 2 0 0 0 0 0 2
PI4KA 0 0 2 0 0 0 0 0 2
UBR5 0 0 2 0 0 0 0 0 2
WDR26 0 0 2 0 0 0 0 0 2
ABCB8, ABCF2, AGAP3, ASB10, ASIC3, ATG9B, CDK5, CHPF2, CRYGN, FASTK, GBX1, KCNH2, MIR671, NOS3, NUB1, PRKAG2, RHEB, SLC4A2, SMARCD3, TMUB1, WDR86 1 0 0 0 0 0 0 0 1
ABCF1 0 0 0 1 0 0 0 0 1
ACSS2, ACTL10, AHCY, ASIP, C20orf144, CBFA2T2, CHMP4B, DYNLRB1, E2F1, EDEM2, EIF2S2, GGT7, GSS, ITCH, MAP1LC3A, MIR499A, MYH7B, NCOA6, NECAB3, PIGU, PROCR, PXMP4, RALY, SNTA1, TP53INP2, TRPC4AP, ZNF341 0 0 1 0 0 0 0 0 1
ACTL10, AHCY, ASIP, C20orf144, CBFA2T2, CHMP4B, DYNLRB1, E2F1, EIF2S2, ITCH, MAP1LC3A, NCOA6, NECAB3, PIGU, PXMP4, RALY, SNTA1, TP53INP2, ZNF341 0 0 1 0 0 0 0 0 1
ACTN2 0 0 0 1 0 0 0 0 1
AKAP8 0 0 0 1 0 0 0 0 1
AKAP9, ANKIB1, CYP51A1, GATAD1, KRIT1, LOC113748416, LRRD1, MIR1285-1 0 0 1 0 0 0 0 0 1
ANKRD1 0 0 0 0 1 0 0 0 1
ANKRD31 0 0 0 1 0 0 0 0 1
ARHGAP22 0 0 0 1 0 0 0 0 1
ARL13B 0 0 0 1 0 0 0 0 1
ARVCF 0 0 0 1 0 0 0 0 1
ATL3 0 0 0 1 0 0 0 0 1
BAIAP3 0 0 0 1 0 0 0 0 1
CACNA1C, CACNA1C-IT3 0 0 1 0 0 0 0 0 1
CACNA2D1 0 0 1 0 0 0 0 0 1
CACNB2, NSUN6 0 0 1 0 0 0 0 0 1
CCDC168 0 0 0 1 0 0 0 0 1
CCN3 0 0 0 1 0 0 0 0 1
CD276 0 0 0 1 0 0 0 0 1
CELSR1 0 0 0 1 0 0 0 0 1
CTRL 0 0 0 1 0 0 0 0 1
DMD 0 0 0 0 1 0 0 0 1
DNA2 0 0 0 1 0 0 0 0 1
DSC2 0 0 1 0 0 0 0 0 1
DSP 0 0 1 0 0 0 0 0 1
ELMOD2 0 0 0 1 0 0 0 0 1
ERAP1 0 0 0 1 0 0 0 0 1
FGF2 0 0 0 1 0 0 0 0 1
FSIP2 0 0 0 1 0 0 0 0 1
GAA 0 0 0 1 0 0 0 0 1
GPATCH2 0 0 0 1 0 0 0 0 1
GUF1 0 0 0 1 0 0 0 0 1
HCN4 0 0 0 0 1 0 0 0 1
HK3 0 0 0 1 0 0 0 0 1
HKDC1 0 0 0 1 0 0 0 0 1
HNRNPM 0 0 0 1 0 0 0 0 1
ILK, TAF10 0 0 1 0 0 0 0 0 1
INTS8 0 0 0 1 0 0 0 0 1
JPH2 0 0 0 0 1 0 0 0 1
KIF11 0 0 0 1 0 0 0 0 1
KLRG1, PZP 0 0 0 1 0 0 0 0 1
LMNA 0 0 0 0 1 0 0 0 1
LRBA 0 0 0 1 0 0 0 0 1
LRRC8E 0 0 0 1 0 0 0 0 1
MDN1 0 0 0 1 0 0 0 0 1
MKI67 0 0 0 1 0 0 0 0 1
MYBPHL 0 0 0 1 0 0 0 0 1
MYH6 0 0 1 0 0 0 0 0 1
MYLK4 0 0 0 1 0 0 0 0 1
MYPN 0 0 0 1 0 0 0 0 1
NET1 0 0 0 1 0 0 0 0 1
NEXN 0 0 0 1 0 0 0 0 1
NLRP13 0 0 0 1 0 0 0 0 1
NLRX1 0 0 0 1 0 0 0 0 1
NR5A2 0 0 0 1 0 0 0 0 1
NRIP1 0 0 0 1 0 0 0 0 1
PIK3CG 0 0 1 0 0 0 0 0 1
PKD1L2 0 0 0 1 0 0 0 0 1
PLCB4 0 0 0 1 0 0 0 0 1
POLRMT 0 0 0 1 0 0 0 0 1
PROKR1 0 0 0 1 0 0 0 0 1
PRSS12 0 0 0 1 0 0 0 0 1
PRSS57 0 0 0 1 0 0 0 0 1
PTOV1 0 0 0 1 0 0 0 0 1
RALGAPA1 0 0 0 1 0 0 0 0 1
RBM20 0 0 0 0 1 0 0 0 1
REM1 0 0 0 1 0 0 0 0 1
RIMS1 0 0 1 0 0 0 0 0 1
RNF207 0 1 0 0 0 0 0 0 1
RTEL1-TNFRSF6B, TNFRSF6B 0 0 0 1 0 0 0 0 1
SCN1B 0 0 0 1 0 0 0 0 1
SDC1 0 0 0 1 0 0 0 0 1
SHANK3 0 0 0 1 0 0 0 0 1
SIDT1 0 0 0 1 0 0 0 0 1
SIRT6 0 0 1 0 0 0 0 0 1
SLC2A5 0 0 0 0 0 1 0 0 1
SLC6A17 0 0 0 1 0 0 0 0 1
SNAPC4 0 0 0 1 0 0 0 0 1
SNAPC5 0 0 0 1 0 0 0 0 1
SND1 0 0 0 1 0 0 0 0 1
STK32B 0 0 0 1 0 0 0 0 1
SYK 0 0 0 1 0 0 0 0 1
TCTN3 0 0 0 1 0 0 0 0 1
TDRD6 0 0 0 1 0 0 0 0 1
TECRL 0 1 0 0 0 0 0 0 1
TGFBRAP1 0 0 0 1 0 0 0 0 1
TLNRD1 0 0 0 1 0 0 0 0 1
TMEM43 0 0 1 0 0 0 0 0 1
TOP2A 0 0 0 1 0 0 0 0 1
TRHDE 0 0 0 1 0 0 0 0 1
TRMU 0 0 0 1 0 0 0 0 1
TRPM4 0 0 1 0 0 0 0 0 1
UBR7 0 0 0 1 0 0 0 0 1
UPP1 0 0 0 1 0 0 0 0 1
USP19 0 0 0 1 0 0 0 0 1
VCL 0 0 1 0 0 0 0 0 1
VSX1 0 0 0 1 0 0 0 0 1
WDR25 0 0 0 1 0 0 0 0 1
WWC2 0 0 0 1 0 0 0 0 1
YME1L1 0 0 0 1 0 0 0 0 1
ZNF174 0 0 0 1 0 0 0 0 1
ZNF341 0 0 0 1 0 0 0 0 1
ZNF862 0 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association risk factor not provided total
Invitae 188 57 1132 186 5 0 0 0 1568
Illumina Clinical Services Laboratory,Illumina 0 1 437 223 24 0 0 0 685
Medical Research Institute,Tokyo Medical and Dental University 0 17 28 74 0 1 0 0 120
CSER _CC_NCGL, University of Washington 1 1 47 9 0 0 0 0 58
Blueprint Genetics 1 3 41 2 0 0 1 0 48
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 10 11 20 1 1 0 1 0 44
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 2 0 7 9 10 0 0 0 28
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 0 10 10 4 0 0 0 24
Integrated Genetics/Laboratory Corporation of America 11 3 0 0 2 0 0 0 16
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 1 4 3 0 0 0 0 0 8
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 1 0 0 1 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 0 2 2
Mendelics 0 0 1 0 0 0 0 0 1
Stanford Center for Inherited Cardiovascular Disease, Stanford University 1 0 0 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 0 0 1
Translational Genomics Laboratory,University of Maryland School of Medicine 0 1 0 0 0 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 1 0 0 0 0 0 1
GeneID Lab - Advanced Molecular Diagnostics 0 1 0 0 0 0 0 0 1

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